Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Disease data Classification Disease Synonyms Chudley-Rozdilsky syndrome Zespół Chudley'a i Rozdilsky'ego ORPHA code 3068 OMIM code 253320 ICD10 code Q87.8 ICD11 code LD90 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl